An epidermal growth factor receptor compound mutation of L858R with S768I in advanced non-small-cell lung cancer: a case report.

BACKGROUND: In the current treatment landscape for non-small cell lung cancers, epidermal growth factor receptor-tyrosine kinase inhibitors have emerged as a well-established treatment option for patients with advanced or metastatic disease. This is particularly true for those with commonly occurring epidermal growth factor receptor mutations. However, the therapeutic efficacy of these agents for so-called rare epidermal growth factor receptor mutations, and in particular those characterized by a high degree of complexity, such as double mutations, remains a subject of clinical uncertainty. CASE PRESENTATION: In this context, we present the case of a 64-year-old man of Moroccan descent, a lifelong non-smoker, diagnosed with metastatic non-small cell lung cancer characterized by a complex epidermal growth factor receptor mutation encompassing L858R and S768I. The patient subsequently underwent afatinib-based treatment, showing notable clinical results. These included a remarkable overall survival of 51 months, with a median progression-free survival of more than 39 months. CONCLUSIONS: This case report is a compelling testimony to the evolving therapeutic landscape of non-small cell lung cancers, providing valuable insight into the potential therapeutic efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors in the realm of rare and complex epidermal growth factor receptor mutations.

Synchronous congenital malignant rhabdoid tumor of the orbit and cerebellar atypical teratoid/rhabdoid tumor: Case report.

Malignant rhabdoid tumor is an uncommon pediatric tumor that often arises from the kidneys but can also develop in other soft tissues including the orbits, where it is known as atypical teratoid rhabdoid tumor. Orbital location is exceptional, with just a few reported cases. Imaging allows for an accurate diagnosis, but histological confirmation is required. The treatment is yet unclear but nearly often surgical, either with or without chemotherapy. In this report, we present a case of a neonate of 1-month-old with an orbital primary malignant rhabdoid tumor with synchronous cerebellar location. The patient was unable to undergo surgery, he had chemotherapy, and unfortunately died 1 week after following palliative treatment. We will illustrate this clinical experience and point out the importance of radiological imaging in the assessment of this uncommon condition.

Mediastinal fibrosis as a late and fatal complication of treated tuberculosis mimicking a neoplastic process in a 34-year-old man.

Fibrosing mediastinitis, also known as sclerosing mediastinitis, is an uncommon condition marked by abnormal proliferation of fibrous tissue in the mediastinum. This condition may accrue either as an idiopathic condition or as a complication of an underlying disease process. Its pathogenesis remains unknown. However, most reported cases are incriminating abnormal immune-mediated hypersensitivity responses to Histoplasma infection. Other rare causes include tuberculosis, blastomycosis, and an idiopathic form that may be associated with other miscellaneous conditions. CT and MR imaging play a vital role in the diagnosis and management of this disease. We present a rare case of fibrosing mediastinitis as a late complication of tuberculosis in a 34-year-old man with a prior history of mediastinal tuberculosis, mimicking initially a neoplastic mediastinal process. We will describe this clinical case in the light of the literature and point out the contribution of radiological imaging in the diagnosis of this rare pathology.

Unusual intracystic papilloma arising from ectopic axillary breast tissue: Case report.

Accessory breast tissue (supernumerary breast tissue) is due to the absence of regression of the primitive milk lines during embryonic life which extends from the axilla to the groin. It is mostly located in the axilla where it is often confused with the axillary extension of the breast, or any pathological process occurring in armpits. Ectopic mammary glands should not be misdiagnosed as it can potentially undergo the same pathological processes that occur in a normally located breast including benign or malignant breast tumors. We report the case of an intracystic papilloma arising from left axillary accessory breast tissue in a 63-year-old woman. The principal symptom was pain in a palpable left axillary mass without inflammatory signs. Subsequent imaging and histopathologic examination proved it to be a papillary tumor in ectopic breast tissue.

Neglected trauma-induced testicular torsion: Clinical, sonographic, and surgical correlation in a 13-year-old adolescent.

Post-traumatic testicular torsion is a rare condition, accounting for approximately 4%-8% of all reported cases of testicular torsion in the literature. Prompt clinical suspicion and intervention are crucial; as testicular torsion is considered a medical and surgical emergency that may lead to testicular necrosis. Ultrasound imaging plays an important role in assessing the integrity of the traumatized scrotum and facilitating early detection of associated testicular torsion. In this case report, we present a neglected post-traumatic testicular torsion in a 13-year-old child that led to orchiectomy.

Diagnosis and treatment of mycotic aneurysms secondary to cardiac hydatid cyst: An unusual cause of multiple cerebral strokes in a 23-year-old female.

Mycotic aneurysms (MA) are a rare but severe complication of systemic infections, carrying a high risk of rupture, hemorrhage, sepsis, and potential multiple organ failure. Intracranial arteries are often affected and present a significant mortality risk due to cerebral bleeding and ischemic strokes. In this paper we describe the case of a 23-year-old female patient who presented with a sudden onset of right hemiparesis, followed by loss of consciousness. Cerebral imaging revealed multiple infarcts in both hemispheres and intracranial hemorrhage secondary to ruptured pseudoaneurysms. On transthoracic echocardiogram, she was found to have a left ventricular cardiac cyst with mobile vegetations potentially responsible for mycotic aneurysms and cerebral strokes. The patient underwent endovascular embolization for the mycotic aneurysms and cardiac surgery for the left ventricular cyst with satisfying clinical outcomes. Postsurgical analysis revealed the cyst to be of hydatid (Echinococcus) origin.

Incidental finding of undiagnosed aortic coarctation in an elderly patient with a rare association with thymic carcinoma: a case report with review of the literature.

Aortic coarctation is a congenital malformation that is relatively prevalent, occurring in approximately 5 out of every 1000 births. The narrowing typically happens at the aortic isthmus between the left subclavian artery and the arterial ligament. It is frequently associated with a bicuspid aortic valve. Generally, coarctation of the aorta is identified and treated during childhood or early adulthood. If left untreated, this condition can lead to a reduced life expectancy in individuals who have not received treatment. We present a case of a 52-year-old man who complained of chest pain, sputum, and hemoptysis persisting for approximately 2 years. Contrast-enhanced computed tomography (CT) scans revealed the presence of an anterior mediastinal mass, which was later confirmed to be a thymic carcinoma (on histological study). Additionally, an incidental finding of a thoracic aortic coarctation with a well-developed collateral circulation was observed. The discovery of aortic coarctation in adult patients as an incidental finding is rare and particularly uncommon in association with mediastinal or thoracic tumor pathology. Adult and elderly patients with uncorrected coarctation generally have a low survival rate, and the management strategies for such cases are controversial, especially when it is associated to other pathologies. Due to the complexity of therapeutic management and the limited literature available on postsurgical outcomes in these cases, making therapeutic decisions requires a multidisciplinary approach and personalized consideration for each individual case. This approach is necessary to evaluate the risk-benefit ratio and determine the most suitable therapeutic solution.

Hydatid pulmonary embolism underlying cardiac hydatid cysts - A case report.

Cystic hydatidosis is an endemic parasitic disease with usual localization in liver and lungs. Rarely it localizes in uncommon sites, the right ventricle being an exceptional localization. We present an extremely rare case of a young man with hydatid pulmonary embolism complicating right-ventricle hydatid cysts. Echocardiography, CT pulmonary angiogram and MR-angiography were performed for the diagnostic evaluation. Our patient did not undergo surgery. He was discharged on a regimen of albendazole, and is still being followed-up. Hydatid disease rarely presents with pulmonary embolism. It has uncharacteristic clinical features, requiring particular diagnosis and therapy.

Heterogeneous distribution of EGFR mutation in NSCLC: Case report.

Background: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation. Case report: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. The present report describes a case of minor histologic intratumoral heterogeneity with heterogeneous distribution of EGFR mutation. Conclusion: Both sensitivity and specificity of molecular methods can provide evidence of intratumoral heterogeneity, which may explain the mismatch between the validation of oncology biomarkers and predicting therapeutic response to targeted therapy.

Hydrosalpinx with adnexal torsion in an adult patient-A case report.

Adnexal torsion is a common gynecological emergency and a significant cause of acute pelvic pain in women. Hydrosalpinx-induced torsion of the adnexa is a rare situation and requires prompt and accurate management. Twenty-three years old nulliparous woman admitted in our structure for acute pelvic pain. The ultrasound revealed an enlarged right ovary with an adnexal cystic mass. We suspected the diagnosis of a right adnexal torsion due to cystic ovarian mass. Laparotomy revealed torsion of the right adnexa and a second large mass appearing to be a hydrosalpinx. Diagnosis of adnexal torsion is difficult and is based on a range of arguments obtained by anamnesis, clinical examination, ultrasonography and other investigations. Early diagnosis is important for preserving tubal and ovarian function, given the risk of ovarian necrosis in young women. Laparoscopy is the gold standard for diagnosing and treating adnexal torsion. The treatment can be conservative or radical, consisting of detorsion of the twisted adnexa, with or without adnexectomy.

Budd-Chiari syndrome secondary to retro-hepatic vena cava web: An unusual cause of epigastric pain.

Epigastric abdominal pain is a common indication for consultation. In the majority of cases, medical history, clinical examination and routine biological exams allow for an easy diagnosis. Sometimes the symptomatology is unusual, in which case it is essential to perform a complete clinical examination and to use various imaging techniques to search for eventual atypical causes. Membranous obstruction of inferior vena cava is a rare cause of such a phenomenon. We describe a Budd-Chiari syndrome caused by membranous obstruction of inferior vena cava in a 66-year-old woman with no medical history as a rare cause of epigastric abdominal pain. We will describe this clinical experience in the light of the literature and point out the contribution of radiological imaging in the diagnosis of this rare pathology.

Lumbar puncture as a cause of tension pneumocephalus, pneumorrachis, and sacral meningocele infection leading to death: An extremely rare case report.

Although it was first described over 100 years ago, lumbar puncture is still an important diagnostic tool for a variety of infectious and noninfectious neurologic conditions. With the widespread use of this common and relatively safe performed medical procedure, minor and major complications can occur even when standard infection control measures and good techniques are used, including post lumbar puncture headaches, infection, bleeding, cerebral herniation, radicular pain, and even pneumocephalus in extremely rare cases. We describe a previously unreported complication of lumbar puncture performed for the diagnosis of meningitis in a 33-year-old woman with no medical history causing pneumorrachis, tension pneumocephalus, and sacral meningocele infection leading to death. Lumbar puncture is a simple diagnostic procedure with few complications, but if the technique is incorrectly performed, or if it is accompanied by occult congenital malformations such as sacral anterior meningocele in our case, the consequences can be fatal.

Unusual case of urothelial carcinoma disguised as xanthogranulomatous pyelonephritis and causing reno-colic fistula: Case report and review of literature.

Xanthogranulomatous pyelonephritis is a rare and aggressive form of chronic pyelonephritis, it can occur at all age groups but is more common in women than in men, supposedly relating to the increased incidence of urinary tract infections and chronic nephrolithiasis in woman. Computed tomography (CT) findings are very helpful in making the correct diagnosis, but the definitive diagnosis is still based on histology, as there are many differential diagnoses such as renal cell carcinoma and renal tuberculosis. The complications of this type of pyelonephritis are due to the involvement of adjacent organs. The most frequent ones are Psoas abscess, perinephric abscess, and sepsis. Nephrocutaneous and renocolic fistulas are less common. We report a case of a 61-year-old male, who presented to emergency for left-sided lumbar pain for whom radiological investigations confirmed a renocolic fistula complicating xanthogranulomatous pyelonephritis. The diagnosis of XGP was proven by histopathological examination of the nephrectomy specimen slides, but there was also association with an underlying malignant squamous differentiation consistent with urothelial carcinoma, which was not evident on CT. XGP is a rare variant of chronic pyelonephritis with known imaging features. The treatment of choice is nephrectomy and histopathological examination is required for final diagnosis, as there may be associated renal malignancy.

Early hepatocellular carcinoma developed within dysplastic nodule as nodule-within-nodule appearance: Case report with literature review.

Close follow-up of patients with liver cirrhosis has led to increased detection of hepatocellular carcinoma (HCC) at an early stage, especially with magnetic resonance imaging (MRI) innovations. We report the case of a 70-year-old man, with a recent history of liver cirrhosis due to chronic hepatitis C virus (HCV) complicated by hepatocellular carcinoma (HCC), and for whom trans-arterial chemoembolization (TACE) was planned, as the patient was assigned Child B7 at admission. Angiography performed during the first TACE cycle shows not only the "tumor blush" corresponding to previously detected HCC but also an additional small foci of HCC uptake seen within a large dysplastic nodule giving the appearance of "nodule-within-nodule." Early detection of hepatocellular carcinoma improves prognosis. Hence, it is essential to be aware of all early aspects of HCC, including the nodule-within-nodule appearance on cross-sectional imaging, and also in angiography, as in this case.

Small bowel carcinoid tumor causing intestinal ischemia: A case report with review of the literature.

Background: Intestinal carcinoid tumors are well-differentiated neuroendocrine tumors that are capable of secreting bioactive hormones and/or amines; These tumors are uncommon but are the most common primary tumors of the small intestine. Case presentation: We report the case of an 80-year-old woman who presented with a long history (about 14 years ago) of atypical digestive symptoms such as vague abdominal pain, alternating diarrhea, and constipation, treated as functional colopathy without improvement, until the day when she presented with worsening pain that prompted her consultation. CT scan revealed typical manifestations of a carcinoid tumor associated with signs of subacute small bowel ischemia. Despite the surgery being considered a gold standard treatment, it was rejected due to the extent of tumor mesenteric involvement, therefore, the patient received only somatostatin treatment. Conclusion: Small bowel carcinoid tumors are rare, with typical imaging features based on cross-sectional imaging (CE CT/MRI). Intestinal ischemia is a well-known complication that can be a factor in mortality.

Left-sided appendicitis revealing a common mesentery: A Case Report.

Intestinal malrotation is a congenital rotational anomaly that results of abnormal rotation of the gut, said to occur in 1 in 6000 live births. Common mesentery predisposes to volvulus of the midgut and internal hernias due to the left position of the cecum and appendix. The association of this anomaly with acute left appendicitis is rarely reported in the literature. Occurrence of acute appendicitis on common mesentery is a source of diagnosis difficulties, which may lead to a surgical management delay. We report a case of a 10-year-old boy, admitted for a left-sided iliac pain whose radiological investigations confirmed a left acute appendicitis associated with complete common mesentery. The child underwent laparoscopic surgery with simple post-operative follow-up.

Sigmoid lipoma as an exceptional cause of intussusception and bowel obstruction in adults: A case report and review of literature.

Acute intestinal intussusception in adults is a rare condition, most often secondary to an organic lesion (tumor or inflammation), representing 1%-5% of intestinal obstructions. Pure colic intussusception on lipoma rectal causing bowel obstruction is an exceptional situation. A 60-year-old man presented to the emergency department for acute abdominal pain with marked abdominal distention and red rectal bleeding. A contrast-enhanced abdominal CT scan was performed, which revealed a recto-sigmoid intussusception on lipoma, causing mechanical intestinal obstruction. The patient underwent a partial reduction of the intussusception with partial sigmoid resection and end colostomy. Colonic lipomas of the recto-sigmoid region represent a very rare condition and a subsequent etiology for intussusception and bowel obstruction in adults. However, it should be considered in the differential diagnosis of such situations.

A rare case of sphenoid giant cell tumor: Case report & review of imaging features post short-term denosumab treatment.

Background: Giant cell tumors (GCTs) are locally aggressive but rarely malignant bone neoplasms that uncommonly involve the skull. In this report, we describe a tumor of the sphenoid sinus. Case presentation: A 51-year-old female was presented with headache, and bilateral decreased visual acuity, CT scan, and brain MRI revealed an infra-sellar enhancing tumor expanding to the sellar and supra-sellar region which proved to be a GCT. the patient had received 03 months of preoperative denosumab-based treatment and imaging follow-up showed regression in size and morphology modifications of tumor tissue. Conclusion: This is one of few reports to describe the appearance of sphenoid bone GCT, and the first report to highlight the effects of short-term denosumab treatment in GCTb in such a location.

Recurrent stroke in young adults caused by atypical fibromuscular carotid dysplasia.

Background: Carotid Web and focal carotid diaphragm are atypical fibromuscular dysplasia. The bilateral stroke due to this dysplasia is extremely rare. We will report a series of three young patients, admitted for a bilateral ischemic stroke caused by carotid bulb web and internal carotid diaphragm. Also, we will discuss their manifestations and treatment modalities. Case presentations: In our study, we will report a series of three North African patients, two females an one male, at the mean age of 37, admitted for an ischemic stroke caused by bilateral carotid bulb web and bilateral internal carotid diaphragm.All of our patients were young and didn't have a history of drug use. Conclusions: In our series, only end-vascular treatment was performed which was necessary to prevent any recurrence. Antiplatelet therapy was used in all cases to prevent any stroke during the follow-up.

Dermatofibrosarcoma protuberans of the anterior abdominal wall: case report and literature review.

Dermatofibrosarcoma protuberans (DFSP) is a rare and slowly growing cutaneous tumor with high risk of local invasion and recurrence. Here, we report a case of a DFSP of the anterior abdominal wall diagnosed in a 45-year-old woman. The clinical examination showed an indurated well-limited oval mass localized in the supra-umbilical level and measuring 5 cm by 3 cm. The histological finding of skin biopsy was consistent with the diagnosis of DFSP. A wide local excision was performed while respecting minimum safety margins of 3 cm. The primary closure was possible after advancing the subcutaneous adjacent tissue. The histological examination of the surgical specimen confirmed the DFSP diagnosis and determined safe microscopic margins. After 4 years of regular follow-up, no locoregional or distant recurrence was observed. We discuss through this case the diagnosis difficulties and the particularities of the abdominal wall localization.